Variant report

Variant	rs12994793
Chromosome Location	chr2:171599107-171599108
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171593069..171595980-chr2:171599016..171601460,4	K562	blood:
2	chr2:171598820..171602992-chr2:171626434..171628904,5	K562	blood:
3	chr2:171594157..171598805-chr2:171599016..171605066,9	K562	blood:
4	chr2:171598979..171601021-chr2:171601414..171603949,2	K562	blood:
5	chr2:171569652..171572636-chr2:171598669..171601244,2	K562	blood:
6	chr2:171598608..171603078-chr2:171626081..171629316,7	K562	blood:

Variant related genes	Relation type
ENSG00000222033	Chromatin interaction
ENSG00000204335	Chromatin interaction
ENSG00000234350	Chromatin interaction
ENSG00000239467	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10165379	0.91[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10175644	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10181282	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10194303	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930438	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895153	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12612710	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12613472	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12619010	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13028382	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1362489	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1362490	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1894919	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34002163	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3749036	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3764915	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3764916	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4132720	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433235	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433238	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433246	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433247	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6433248	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66833017	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6711176	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6723611	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6726371	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733809	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6738022	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6757195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7580460	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7608979	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs869954	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs953680	0.90[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs954321	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9973711	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171574000-171620800	Weak transcription	Pancreas	Pancrea
2	chr2:171593600-171600800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:171594000-171600200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:171595200-171600200	Weak transcription	Gastric	stomach
5	chr2:171596200-171600200	Enhancers	K562	blood
6	chr2:171596200-171601200	Weak transcription	HSMMtube	muscle
7	chr2:171596400-171599200	Weak transcription	NH-A	brain
8	chr2:171596800-171599800	Weak transcription	Stomach Mucosa	stomach
9	chr2:171597600-171603800	Weak transcription	HMEC	breast
10	chr2:171597800-171604000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:171598000-171603800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:171598400-171600600	Enhancers	Fetal Intestine Small	intestine
13	chr2:171598600-171599200	Bivalent Enhancer	HepG2	liver
14	chr2:171599000-171600000	Weak transcription	Fetal Intestine Large	intestine

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